ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83101G>A (p.Gly27701Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002344820 SCV002651372 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.G18636S variant (also known as c.55906G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 55906. The glycine at codon 18636 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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